single nucleotide variant | NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter) | SBF2 | Pathogenic | 11 | 10014638 | 10014638 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_030962.4(SBF2):c.1053+2T>C | SBF2 | Pathogenic | 11 | 10015466 | 10015466 | A | G | criteria provided, single submitter | ClinGen:CA379638139 |
Deletion | NM_030962.4(SBF2):c.754_823del (p.Tyr252fs) | SBF2 | Pathogenic | 11 | 10022499 | 10022568 | CCAATAATGAAAGGCGTTGGGGAACTTAGAACTTCCAGTAGCTGAGCCGGGAGAATAGGGATATAAGGATA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_030962.4(SBF2):c.619+1G>A | SBF2 | Likely pathogenic | 11 | 10049998 | 10049998 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_030962.4(SBF2):c.548T>A (p.Leu183Ter) | SBF2 | Pathogenic | 11 | 10050070 | 10050070 | A | T | criteria provided, single submitter | ClinGen:CA379646027 |
Deletion | NC_000011.10:g.(?_10193902)_(10193987_?)del | SBF2 | Pathogenic | 11 | 10215449 | 10215534 | na | na | criteria provided, single submitter | - |
Deletion | NM_030962.4(SBF2):c.20_21del (p.Tyr7fs) | SBF2 | Pathogenic | 11 | 10315596 | 10315597 | AGT | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001005361.3(DNM2):c.1021G>A (p.Glu341Lys) | DNM2 | Likely pathogenic | 19 | 10904424 | 10904424 | G | A | criteria provided, single submitter | ClinGen:CA339654 |
single nucleotide variant | NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe) | DNM2 | Likely pathogenic | 19 | 10904473 | 10904473 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16620726 |
single nucleotide variant | NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) | DNM2 | Pathogenic/Likely pathogenic | 19 | 10904475 | 10904475 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA248603,UniProtKB:P50570#VAR_068425,OMIM:602378.0012 |